Lecture

Genetic Association Studies: Methods and Challenges

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In courses (2)

MATH-474: Statistics for genomic data analysis

After a short introduction to basic molecular biology and genomic technologies, this course covers the most useful statistical concepts and methods for the analysis of genomic data. ...

MATH-493: Applied biostatistics

This course covers topics in applied biostatistics, with an emphasis on practical aspects of data analysis using R statistical software. Topics include types of studies and their design and analysis, high dimensional data analysis (genetic/genomic) and oth ...

Description

This lecture covers the methods and challenges of genetic association studies, focusing on case-control and cohort study designs, transmission disequilibrium test, population substructure, spurious associations, genotyping quality control, statistical analysis, replication criteria, and limitations of genome-wide association studies.

Instructor

Darlene Goldstein

Official source

Related concepts (29)

Population structure (genetics)

Population structure (also called genetic structure and population stratification) is the presence of a systematic difference in allele frequencies between subpopulations. In a randomly mating (or panmictic) population, allele frequencies are expected to be roughly similar between groups. However, mating tends to be non-random to some degree, causing structure to arise. For example, a barrier like a river can separate two groups of the same species and make it difficult for potential mates to cross; if a mutation occurs, over many generations it can spread and become common in one subpopulation while being completely absent in the other.

Statistical inference

Statistical inference is the process of using data analysis to infer properties of an underlying distribution of probability. Inferential statistical analysis infers properties of a population, for example by testing hypotheses and deriving estimates. It is assumed that the observed data set is sampled from a larger population. Inferential statistics can be contrasted with descriptive statistics. Descriptive statistics is solely concerned with properties of the observed data, and it does not rest on the assumption that the data come from a larger population.

Statistics

Statistics (from German: Statistik, () "description of a state, a country") is the discipline that concerns the collection, organization, analysis, interpretation, and presentation of data. In applying statistics to a scientific, industrial, or social problem, it is conventional to begin with a statistical population or a statistical model to be studied. Populations can be diverse groups of people or objects such as "all people living in a country" or "every atom composing a crystal".

Analysis of variance

Analysis of variance (ANOVA) is a collection of statistical models and their associated estimation procedures (such as the "variation" among and between groups) used to analyze the differences among means. ANOVA was developed by the statistician Ronald Fisher. ANOVA is based on the law of total variance, where the observed variance in a particular variable is partitioned into components attributable to different sources of variation.

Cohort study

A cohort study is a particular form of longitudinal study that samples a cohort (a group of people who share a defining characteristic, typically those who experienced a common event in a selected period, such as birth or graduation), performing a cross-section at intervals through time. It is a type of panel study where the individuals in the panel share a common characteristic.

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